[Maple syrup disease. A clinical and rehabilitative study]

Abstract

A child found, following long-drawn-out diagnosis, to be suffering from a disease characterised by maple syrup odour of the urine, offers the basis for some remarks on the most topical problems of rehabilitation in patients suffering from the sequelae of infant encephalopathies. The current physiopathologico-biochemical classification of protein metabolism changes and the nosographic-pathogenetic classification of the disease observed are reviewed. Mention is then made of diagnostico-clinical, laboratory and instrumental procedures before moving on to detailed description on the patient. Various re-educational techniques are examined and the paper closes with some remarks on problems of acceptance by society in the current socio-welfare-medical-educational situation. Stress is laid on the importance of attentive, profound analysis of each case, an examination which must exclude any mystifying equalitarianism a priori, and take the material form of effective intervention. Allowance must be made for the "globality" of the problems involved, the rejection of any "delegation", accompanied by a real awareness of the most appropriate solutions and the effective participation of the community as a whole. To achieve these aims, local medical structures today are of vital practical importance, representing as they do the analytical and operative terrain of afferences and efferences, precisely as regards their sociomedical-educational integration with specialist centres.